Leri-Weill dyschondrosteosis: An under-recognised cause of short stature [PDF]
South African Journal of Radiology, 2009 Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated.
E G Lemire, S Wiebe
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Spontaneous final adult height in patients with idiopathic short stature [PDF]
Pediatric Endocrinology, Diabetes and MetabolismMagdalena Banaszak-Ziemska +2 more
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Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature [PDF]
Frontiers in EndocrinologyObjectiveTo report the identification of a FGFR3 gene variant in a family with idiopathic short stature, characterized by proportionate stature and the absence of dysmorphic features, and to highlight the importance of genetic investigation in ISS as ...
Beibei Zhang +3 more
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A study of short stature among adolescents in the rural tertiary center- A prospective observational study [PDF]
Al Ameen Journal of Medical Sciences, 2021 Background: Long-term morbidities during the adolescence period cause short stature which is permanent, once epiphysis fuse. Objectives: To evaluate etiology in short stature adolescents and its relation with HSDS (Height Standard Deviation Score) and BA
Dixa Shah +5 more
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Romanian Journal of Laboratory Medicine, 2023 Background: Idiopathic short stature (ISS) is a common type of short stature. We aimed to analyze the diagnostic values of serum visceral adipose tissue-derived serine protease inhibitor (Vaspin) and secreted frizzle-related protein 5 (SFRP5) for ISS ...
Che Ling +4 more
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The Effect of The Height of a Second-Degree Relative on Children with Short Stature
Trends in Pediatrics, 2021 Objective: This study aimed to investigate the effect of the heights of second-degree relatives on adult height. Methods: This was a cross-sectional study.
Seda Yilmaz Semerci +3 more
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JMIR Research Protocols, 2021 BackgroundSince the underlying cause of idiopathic short stature can indeed be undiagnosed mucopolysaccharidosis type I, it is critical to identify patients with mucopolysaccharidosis type I among screened patients with idiopathic
Danyah Alsafadi +7 more
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Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation [PDF]
, 2017 Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage.
Hideo Baba +15 more
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Heterozygous GHR gene mutation in a child with idiopathic short stature. [PDF]
, 2014 Several monogenic defects have been reported to be associated with idiopathic short stature. Focusing on growth hormone receptor (GHR)-gene alterations, the heterozygosity of the same gene defect may be associated with a range of growth deficits.
Pagani, Sara +10 more
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GENETIC FEATURES OF CHILDREN WITH IDIOPATHIC SHORT STATURE
Wiadomości Lekarskie, 2023 The aim: To investigate the clinical and genetic characteristics of children with idiopathic short stature, taking into account the polymorphism of the vitamin D receptor (VDR) BsmI gene. Materials and methods: Eighteen children diagnosed with of idiopathic short stature who were treated at the State Institution «V.P.
Mariana, Ryznychuk +4 more
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